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389 results

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Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study.
Nickel M, Simonati A, Jacoby D, Lezius S, Kilian D, Van de Graaf B, Pagovich OE, Kosofsky B, Yohay K, Downs M, Slasor P, Ajayi T, Crystal RG, Kohlschütter A, Sondhi D, Schulz A. Nickel M, et al. Among authors: jacoby d. Lancet Child Adolesc Health. 2018 Aug;2(8):582-590. doi: 10.1016/S2352-4642(18)30179-2. Epub 2018 Jul 2. Lancet Child Adolesc Health. 2018. PMID: 30119717 Free PMC article.
Study of Intraventricular Cerliponase Alfa for CLN2 Disease.
Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke JP, Cahan H, Slasor P, Jacoby D, Kohlschütter A; CLN2 Study Group. Schulz A, et al. Among authors: jacoby d. N Engl J Med. 2018 May 17;378(20):1898-1907. doi: 10.1056/NEJMoa1712649. Epub 2018 Apr 24. N Engl J Med. 2018. PMID: 29688815 Free article. Clinical Trial.
Neurofilament light is a treatment-responsive biomarker in CLN2 disease.
Ru Y, Corado C, Soon RK Jr, Melton AC, Harris A, Yu GK, Pryer N, Sinclair JR, Katz ML, Ajayi T, Jacoby D, Russell CB, Chandriani S. Ru Y, et al. Among authors: jacoby d. Ann Clin Transl Neurol. 2019 Dec;6(12):2437-2447. doi: 10.1002/acn3.50942. Epub 2019 Dec 8. Ann Clin Transl Neurol. 2019. PMID: 31814335 Free PMC article. Clinical Trial.
Clinical Pharmacokinetics and Pharmacodynamics of Cerliponase Alfa, Enzyme Replacement Therapy for CLN2 Disease by Intracerebroventricular Administration.
Kim A, Grover A, Hammon K, de Hart G, Slasor P, Cherukuri A, Ajayi T, Jacoby D, Schulz A, Specchio N, de Los Reyes E, Gissen P, Henshaw JW. Kim A, et al. Among authors: jacoby d. Clin Transl Sci. 2021 Mar;14(2):635-644. doi: 10.1111/cts.12925. Epub 2020 Nov 30. Clin Transl Sci. 2021. PMID: 33202105 Free PMC article. Clinical Trial.
Epigenetic therapy for Friedreich ataxia.
Soragni E, Miao W, Iudicello M, Jacoby D, De Mercanti S, Clerico M, Longo F, Piga A, Ku S, Campau E, Du J, Penalver P, Rai M, Madara JC, Nazor K, O'Connor M, Maximov A, Loring JF, Pandolfo M, Durelli L, Gottesfeld JM, Rusche JR. Soragni E, et al. Among authors: jacoby d. Ann Neurol. 2014 Oct;76(4):489-508. doi: 10.1002/ana.24260. Epub 2014 Sep 16. Ann Neurol. 2014. PMID: 25159818 Free PMC article. Clinical Trial.
Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders.
Mulberg AE, Bucci-Rechtweg C, Giuliano J, Jacoby D, Johnson FK, Liu Q, Marsden D, McGoohan S, Nelson R, Patel N, Romero K, Sinha V, Sitaraman S, Spaltro J, Kessler V. Mulberg AE, et al. Among authors: jacoby d. Orphanet J Rare Dis. 2019 Feb 8;14(1):36. doi: 10.1186/s13023-019-1017-5. Orphanet J Rare Dis. 2019. PMID: 30736861 Free PMC article.
A Technology-Assisted Web Application for Consumer Access to a Nonprescription Statin Medication.
Nissen SE, Hutchinson HG, Wolski K, Watson K, Martin SS, Michos ED, Weintraub WS, Morris M, Cho L, Laffin L, Jacoby D, Ballantyne CM, Ekelund J, Birve F, Menon V, Strzelecki M, Ridker PM. Nissen SE, et al. Among authors: jacoby d. J Am Coll Cardiol. 2024 Apr 1:S0735-1097(24)06686-5. doi: 10.1016/j.jacc.2024.03.388. Online ahead of print. J Am Coll Cardiol. 2024. PMID: 38599257 Free article.
Efficacy and Safety of Aficamten in Symptomatic Nonobstructive Hypertrophic Cardiomyopathy: Results From the REDWOOD-HCM Trial, Cohort 4.
Masri A, Sherrid MV, Abraham TP, Choudhury L, Garcia-Pavia P, Kramer CM, Barriales-Villa R, Owens AT, Rader F, Nagueh SF, Olivotto I, Saberi S, Tower-Rader A, Wong TC, Coats CJ, Watkins H, Fifer MA, Solomon SD, Heitner SB, Jacoby DL, Kupfer S, Malik FI, Meng L, Sohn RL, Wohltman A, Maron MS; REDWOOD-HCM Investigators. Masri A, et al. Among authors: jacoby dl. J Card Fail. 2024 Mar 15:S1071-9164(24)00082-4. doi: 10.1016/j.cardfail.2024.02.020. Online ahead of print. J Card Fail. 2024. PMID: 38493832 Free article.
Data formats and standards for opportunistic rainfall sensors.
Fencl M, Nebuloni R, C M Andersson J, Bares V, Blettner N, Cazzaniga G, Chwala C, Colli M, de Vos L, El Hachem A, Galdies C, Giannetti F, Graf M, Jacoby D, Victor Habi H, Musil P, Ostrometzky J, Roversi G, Sapienza F, Seidel J, Spackova A, van de Beek R, Walraven B, Wilgan K, Zheng X. Fencl M, et al. Among authors: jacoby d. Open Res Eur. 2024 Feb 13;3:169. doi: 10.12688/openreseurope.16068.2. eCollection 2023. Open Res Eur. 2024. PMID: 38405183 Free PMC article.
389 results